串联重复扩展:好的，坏的和隐藏的

IF 0.8 4区生物学 Q4 GENETICS & HEREDITY

Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI:10.1515/medgen-2021-2097

Christel Depienne

引用次数: 0

摘要

人类基因组包含超过一百万个串联重复序列[1，2]。根据重复基序的大小，这些高度不稳定和多态的变异在历史上被分为三组。微卫星（或短串联重复序列，STR）对应于典型的2-6至9个核苷酸的重复，是基因非编码区中最常见的重复。微小卫星（10–99 bp重复序列）是一类异质重复元件，也存在于基因的特定部分，但更为罕见，而卫星（≥100 bp重复）仅限于基因缺失区，主要构成异染色质和着丝粒。微卫星和小卫星之间的区别是模糊的，它们共同形成了可变数量的串联重复序列（VNTR）。串联重复序列主要分布在基因组的非编码区，尽管在蛋白质编码基因的一个子集中也可以发现三联体的重复。这

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Medizinische Genetik Medicine-Genetics (clinical)

CiteScore

1.40

自引率

9.10%

发文量

审稿时长

>12 weeks

期刊介绍： medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.